ID stringlengths 13 17 | question stringlengths 88 1.13k | answer stringlengths 6 156 | reference_sequence stringlengths 4.1k 4.1k | variant_sequence stringlengths 4.1k 4.1k |
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Task1_train_6800 | Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa pruriginosa | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6801 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6802 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6803 | This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; Epidermolysis bullosa dystrophica | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... | AAGTGAGCAGGGTCAGAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCT... |
Task1_train_6804 | This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; Recessive dystrophic epidermolysis bullosa | GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACG... | GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACG... |
Task1_train_6805 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; COL7A1-related disorder | GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACG... | GAGGCAGTGGGGATCAGAGTCAGGCAGGTTGGGGGCCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACG... |
Task1_train_6806 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; not provided | CCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTC... | CCACAGCTTCAGAGGTTGGGGCAGGCAGGCTGGAAGATGGTTATGAGGTTGGAAGGGTAGGGAAGGTTCAGGGATCAGGAGTCAGAGCTGGGGCCCCTTACCTTCTGGCCCTGAAGTCCTTCGGGGCCTCTGGGACCAACACTGCCAGGTGGCCCTGGGGGACCAGCAGAGCCATCATTTCCACTGGGGCCTGGGAAGCCCCCAATTCCTGGGGTTCCCTGGGGAGATATAGGACAGAGTCAGTAATCAGAGGCCCCAGAGATGGACCCTCTCCCAAAGTGCACGCTCCCCTCAATTCACCATGACCATGGCTTCAACTC... |
Task1_train_6807 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolysis bullosa dystrophica | ATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAA... | ATCCCCATGACTCCAACTCCACTATAGCCCCCTGCCCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAA... |
Task1_train_6808 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Epidermolysis bullosa dystrophica | CCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCC... | CCTGATGCACATGCCCCCTCCACCTCCCATGCTTTCATCCTAACTCCACTGTGACCCCAACCCACCTTGACACCTCGAGACCAGCCCCACTTCAGCCCCCAAAGTCCCAACCCTCTACAGCCTTCCTTGTCCCTACACCCCCATGACCCGACCATGAGCTTCCCTGCCCCATCCTGACTCCCTGTCATGTCCACTGTCCACAGACCCTGTACCTTGGGACCGATCAGGCCCTCCTTGCCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCC... |
Task1_train_6809 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Epidermolysis bullosa dystrophica | CCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGT... | CCAGGGGCCCCCGACTGGCCCGGCACACCAGGCTCCCCCTGGAGAAAAAAAGACATGAACTTGGCCCCCGTCCACCCGTGGCCCCCTCATTCTGAGCGTGCCCACACTCACCATCTCTCCTTTGTGTCCTGCCAGCCCGGGGCGGCCTGGGGGACCAGCTTCTCCCTGCAGGCATCAGGCAGTGGGGTGAGCCTTAGGCCCCAGGCCACGTAGCCCCCCAGCCCCCATCCCCTCTGTACCTTGTCTCCCTTCTCTCCATCAAGGCCACAGGCTCCCTTCACTCCCCGTTCACCCTGAGGGAGAAAAGCAGATGAAGAAGT... |
Task1_train_6810 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Recessive dystrophic epidermolysis bullosa | TTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGA... | TTCTCCTCGGATACCAGGCACTCCATCCTTTCCTGGGGATCCCTAGCAGGGAGAGGGTCCATGTGAGGTCAGAGGAGGTCAGTGAGGGACCAAAGAGAATCGCCCTGGATAGTGGGTAGGGAACACCATGGGGTGGGAGTCACCTCTGGAGGCCAGAGCCACTGGGGCTTGCCATGGGGACAAGGGTCACCATAGGCAGGGGACACCATCATAGGCGGCTACTGTGGAGGTGGGGGACCCTGGGTGACATGAGGACACCATGAGAGCACTGGGTCACTATAAGGTCAAAAGCTACCACACTGGTGGGACCACCATGGTGA... |
Task1_train_6811 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Epidermolysis bullosa dystrophica | CAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTC... | CAGGCCACACACAGATCCCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTC... |
Task1_train_6812 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; Epidermolysis bullosa dystrophica | CCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG... | CCGGGTGAACACACATGGGGCCGGCAGCAAGGGAGCCAGAACCCCCAGCACTTAAGAGGACCCCCAGGATATGTGTGTGTGTGATGCTGGCTCTGGACCTGGGCCTGGGCCTGGGCCTGGGGCAGAACTTGCCTGGGGTCCCAGGAGTCCACGCAGTCCTGGCAACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAG... |
Task1_train_6813 | This gene mutation involves COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with any clinical condition, or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6814 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Epidermolysis bullosa dystrophica | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6815 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6816 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6817 | A mutation found in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated? | Pathogenic; Transient bullous dermolysis of the newborn | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6818 | Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Nonsyndromic congenital nail disorder 8 | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6819 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Epidermolysis bullosa pruriginosa | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6820 | This mutation occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Does this change lead to a known medical condition, or is it benign? | Pathogenic; Recessive dystrophic epidermolysis bullosa | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6821 | Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... | AACCCGGCTGAGCCCTTGTCACCAGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCC... |
Task1_train_6822 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | AGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCT... | AGGCTCTCCCTTGCTGCCCTGTGGGAGTGACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCT... |
Task1_train_6823 | This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCT... | GACCAGGAGAGGGATTCAGTCAGGACCAGATCAGGCTGGGGGCTTAGAATACAACGAGCCCGCCAGCTGGGGCAGAGCTCAAGTCACTCCCGAACGGCCCTAGCAGCACGTCCTCCCAGCCTGTGCCATAGCGGGTGGAACTGGGGGCTGTAGTCCACAGACTGGCTCATTTCTCACCCCAAGGACTCCAGACCCTTGCCCCGCCCTCTTATCACTGGGTTCCTCATCCCATCTGAAGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCT... |
Task1_train_6824 | Gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3, is impacted by this variant. What is the biological outcome — benign or pathogenic? | Pathogenic; not provided | AGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCAT... | AGCACCTTCAGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCAT... |
Task1_train_6825 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | AGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCC... | AGATGGGGACACCCAAGGAGCCCCTTTCCTGTCCCTATAGGGCCCCTTCATAGGGCCAGTCCACAGAGCTCTCCTAACCTCACACCAAGGCCTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCC... |
Task1_train_6826 | A variant on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one? | Pathogenic; not provided | CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGAT... | CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGAT... |
Task1_train_6827 | This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Epidermolysis bullosa dystrophica | CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGAT... | CTTGAGCCCTCCCTAGAGCCCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGAT... |
Task1_train_6828 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; Nonsyndromic congenital nail disorder 8 | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6829 | A variant was discovered on Chromosome 3, affecting COL7A1 (collagen type VII alpha 1 chain). What is its functional impact — neutral or pathogenic? State the disease if pathogenic. | Pathogenic; Recessive dystrophic epidermolysis bullosa | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6830 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6831 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6832 | A variant was discovered in gene COL7A1 (collagen type VII alpha 1 chain), Chromosome 3. Please indicate if this mutation results in a known disease or if it's non-harmful. | Pathogenic; Epidermolysis bullosa pruriginosa | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6833 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Transient bullous dermolysis of the newborn | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6834 | With a mutation on Chromosome 3 in gene COL7A1 (collagen type VII alpha 1 chain), classify this variant as benign or pathogenic. Include the disease if it's pathogenic. | Pathogenic; Pretibial dystrophic epidermolysis bullosa | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... | CCCTCCTCTCGGCCACTCCATAGTCAGCCACAGAACCCCTTCCCCCTAAACCCCAGAAAGCCTCCTCCTGTCCTCCCCTCCTGCCCTCACAGATGCTGTGGAACCACCACAGCCACAGGACCCCACAGAGAGTACACCACCCTCTTCCCTGTACCTTGTCACCAGGGTCCCCATTGTCTCCCCGAGGTCCTTTGTCACCATCCAAGCCCCGAGGCCCTCGTTCACCCTGGGTTGGTTTGGGTAAGAAGTCACGGTAAGGGGCTGAAGGTCCCTCACCCTCTGGGAGTTTGAGCTCTCAGATGCCCTGGGCCAGCCCCACG... |
Task1_train_6835 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGAT... | GAGGACGGAGGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGAT... |
Task1_train_6836 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; Epidermolysis bullosa dystrophica | GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTC... | GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTC... |
Task1_train_6837 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTC... | GGAGGATCAGGGGGAGGAGGGAAACAGTGGGGACCAGACAAAGGGGACAGGGGTAGACGAGGAGGGCCAGAGGGCTAGGGAGGATGGCAGAGAGTCCTGGGGTACAAAGGGCACAGGCAGGGGACTGAAGTCACAGCACTGTCACTTTCCCCAGCGGGACCCACCGTGAGTCCTCGGGGTCCCTCCTGGCCGGGGCGGCCATCTTCACCCTGGATGGTGACATTAGGTTCATTGACTCAGAGGTTGGAAATCAGAGGCAAGAGCTGGGATGAAGGGAGTTCGGCTGTGGAGTAAGACATACGTACCCGGATGCCTGGCTC... |
Task1_train_6838 | Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... |
Task1_train_6839 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; COL7A1-related disorder | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... |
Task1_train_6840 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Epidermolysis bullosa dystrophica | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... | CCCAGGGGTCCTGGGATTCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAG... |
Task1_train_6841 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; not provided | TCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGT... | TCCTTCTCTCCCTGGGGGGCCTGCCAGACCCTACCAGAAAAATGGGGCAAGAGAGGCAGAGAGTGACTTGGGAACCCTCCTACCCTCTGCCCCCTCAAGACTGGGAACCCCCAAGGCAGGGCCCCCTCCTCACCCACCATGGATTCACCATGCCCCTACATGCTGTTCCCAGCCCCTCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGT... |
Task1_train_6842 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; not provided | TCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGG... | TCACCCGCTCTCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGG... |
Task1_train_6843 | This mutation is located in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it associated with a disease or is it a benign polymorphism? | Pathogenic; not provided | TCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCA... | TCCACTAGGGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCA... |
Task1_train_6844 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant. | Pathogenic; not provided | GGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGG... | GGCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGG... |
Task1_train_6845 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | GCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGG... | GCCTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGG... |
Task1_train_6846 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is altered by this variant. Does this mutation result in a disease or is it benign? | Pathogenic; Epidermolysis bullosa dystrophica | CTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAG... | CTGGCTGACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAG... |
Task1_train_6847 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; Recessive dystrophic epidermolysis bullosa | GACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCAC... | GACCCATCTCTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCAC... |
Task1_train_6848 | Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa pruriginosa, autosomal dominant | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... |
Task1_train_6849 | This sequence variant lies in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it clinically significant, and what condition might it cause if any? | Pathogenic; Transient bullous dermolysis of the newborn | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... |
Task1_train_6850 | This variant lies on Chromosome 3 and affects the gene COL7A1 (collagen type VII alpha 1 chain). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause? | Pathogenic; Nonsyndromic congenital nail disorder 8 | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... | CTCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGAC... |
Task1_train_6851 | The gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic? | Pathogenic; not provided | TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACC... | TCCTCGAGGGCCTGTCTGACCCGGGAACCCAACAACACCAGGAGCACCGGGCAGGCCAGGGAGGCCCAGATCTCCCTGAAATAAAAACAGCAAAGGGAGGGAATGGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACC... |
Task1_train_6852 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | GGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAA... | GGTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAA... |
Task1_train_6853 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; Inborn genetic diseases | GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAAC... | GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAAC... |
Task1_train_6854 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAAC... | GTCAATGCAGGACCCCTCCCAGGACTCTCATCAGAACTCCCTCTTCCTCCTGTGGGGGCCCGGCCTGCTGCCCCTACAACTGGTGATGGGGCATTGACTTACCTTCACACCTGGAGGGCCAGGAGGCCCAGGGGAGCCCGGGACCCCGACTCCTGGGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAAC... |
Task1_train_6855 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Epidermolysis bullosa dystrophica | GGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACG... | GGTCACCCTTTGAGGAAAAGAGGCATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACG... |
Task1_train_6856 | The following genetic variant occurs in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Classify its clinical effect — pathogenic or benign — and list any associated condition. | Pathogenic; Epidermolysis bullosa dystrophica | ATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTG... | ATCGGATCAAGCTCAGGGAGTCTCACGACCAGGACCCCAGCAGGGACCCTTCTGGGTACACATACCTTGAAACCTTTGGGTCCTGGAGCCCCTTTCTGACCCTAAGAAAACCCAGCAAACAGCATTTGAGAGGGTAGGAACATGAGCACAGAGTTCAGACACGGGCTGAAAATATTCCCAGGGGAGTTCTGATGTGACCATGAACACATGGGAACTCAGACATGCGACCAAGAATTGGCTCACAGGAGCTCAGACATGACCATGGCCTATCTCAGGACAGCACAGACAGAGGGACGCTCAGATACTACCATAGACAGGTG... |
Task1_train_6857 | This sequence change occurs on Chromosome 3, altering COL7A1 (collagen type VII alpha 1 chain). What is the medical significance of this variant — is it benign or linked to a disease? | Pathogenic; not provided | CCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGC... | CCTTCTCTCCCTTTGCTCCAGGGAGCCCGACCACAGCCTGTGGGGAATGCTAGTGAGTTTCCTCCTCCTCCCCCGCCCCCACCCTGCCACCCCCATGGCATTTGGAAACAGGCTTGTGGGTGAGGCAGAGGAGTTGCTGCAGGGGGTGGAAGTCAGGGTCAAAGATCACCTGTCCAGGGGCCCCCGTGGGGCCAGGTTCTCCTTTAGGTCCGACAGGGCCAGGCAGACCTGGTGACCCCTATGGCAGAGCAGCGTGAGGAACTCAGTGCCTCTCCACCACCACCCCTGCTGCCCCACTCCTCATATTTCAGGCCCACAGC... |
Task1_train_6858 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGA... | ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGA... |
Task1_train_6859 | This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGA... | ACGGAGAACAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGA... |
Task1_train_6860 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGT... | CAAGTCGGATGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGT... |
Task1_train_6861 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Epidermolysis bullosa pruriginosa, autosomal dominant | TGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGC... | TGTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGC... |
Task1_train_6862 | The gene COL7A1 (collagen type VII alpha 1 chain), on Chromosome 3, contains a mutation. Does this mutation cause a disorder, or is it a benign change? | Pathogenic; not provided | GTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCT... | GTCAGGGTGACAATGGACACAGGACGACATGAGAGAACATGGGCCCCAAGGAGTGAAAACACGGTGTCCCTACAGGGGCCACAGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCT... |
Task1_train_6863 | This variant impacts the gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is the change likely to result in a pathogenic outcome? | Pathogenic; not provided | AGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGA... | AGGGACTCACTCACCACAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGA... |
Task1_train_6864 | Here’s a variant in COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. What is the predicted biological effect — harmless or disease-causing? | Pathogenic; not provided | CAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATC... | CAAGGCCTGAAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATC... |
Task1_train_6865 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | AAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCT... | AAGGGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCT... |
Task1_train_6866 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Recessive dystrophic epidermolysis bullosa | GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGA... | GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGA... |
Task1_train_6867 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Epidermolysis bullosa dystrophica | GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGA... | GGCCGGGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGA... |
Task1_train_6868 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Epidermolysis bullosa dystrophica | GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCAC... | GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCAC... |
Task1_train_6869 | This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; not provided | GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCAC... | GGGGGTCCAGGAAGTCCCACAGCTCCAGTAGGTCCAGTCAGGCCCTGGAGGAAGAGAAAGTTCAGGGCAGTGCCAACCCCACCCATCTCCCTATGACCCTAACCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCAC... |
Task1_train_6870 | Chromosome 3 houses a mutation in gene COL7A1 (collagen type VII alpha 1 chain). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any? | Pathogenic; not provided | CCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCC... | CCTGTGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCC... |
Task1_train_6871 | Mutation context: Chromosome 3, Gene COL7A1 (collagen type VII alpha 1 chain). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable. | Pathogenic; not provided | TGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGC... | TGAGCTAGGCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGC... |
Task1_train_6872 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | GCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGC... | GCCACTCACCCGTCCTGGAGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGC... |
Task1_train_6873 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epidermolysis bullosa dystrophica | AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCC... | AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCC... |
Task1_train_6874 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Recessive dystrophic epidermolysis bullosa | AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCC... | AGGTCCTGTCTCTCCAGGCTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCC... |
Task1_train_6875 | This variant affects gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Evaluate its biological effect and specify any disease association. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTC... | CTCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTC... |
Task1_train_6876 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; not provided | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... |
Task1_train_6877 | This alteration occurs within gene COL7A1 (collagen type VII alpha 1 chain) located on Chromosome 3. Is it associated with a disease or is it a benign variant? | Pathogenic; not provided | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... |
Task1_train_6878 | Located on Chromosome 3, this mutation impacts COL7A1 (collagen type VII alpha 1 chain). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... |
Task1_train_6879 | A change on Chromosome 3 affects gene COL7A1 (collagen type VII alpha 1 chain). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable. | Pathogenic; Epidermolysis bullosa dystrophica | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... |
Task1_train_6880 | A sequence alteration has been identified in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it disease-inducing or harmless? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... | TCCCCCTGCAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCA... |
Task1_train_6881 | This alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 may affect gene function. Does it lead to a disease or is it benign? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAG... | CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAG... |
Task1_train_6882 | Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Epidermolysis bullosa dystrophica | CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAG... | CAAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAG... |
Task1_train_6883 | Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | AAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGT... | AAACAACCCAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGT... |
Task1_train_6884 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTG... | CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTG... |
Task1_train_6885 | A genomic change on Chromosome 3 affects COL7A1 (collagen type VII alpha 1 chain). Classify this variant as benign or pathogenic, and name the disease if relevant. | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTG... | CAGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTG... |
Task1_train_6886 | A variant has been detected on Chromosome 3 in COL7A1 (collagen type VII alpha 1 chain). What is its effect — pathogenic or benign? If pathogenic, name the disease. | Pathogenic; not provided | AGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGG... | AGAGACTGCATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGG... |
Task1_train_6887 | Assess the clinical impact of this variant on gene COL7A1 (collagen type VII alpha 1 chain), found on Chromosome 3. State whether it’s pathogenic or benign, and the disease if applicable. | Pathogenic; Recessive dystrophic epidermolysis bullosa | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... |
Task1_train_6888 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... |
Task1_train_6889 | A mutation in COL7A1 (collagen type VII alpha 1 chain), located on Chromosome 3, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease. | Pathogenic; Epidermolysis bullosa dystrophica | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... | ATGAGCAGAGCCCACGTGGCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACC... |
Task1_train_6890 | Here is a variant affecting COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Please identify whether it is a benign mutation or associated with a disorder. | Pathogenic; Epidermolysis bullosa dystrophica | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6891 | A genetic alteration is present in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is this variant benign or disease-causing, and if the latter, which condition is involved? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6892 | Given this context: Chromosome 3, gene COL7A1 (collagen type VII alpha 1 chain) — does this variant present pathogenic behavior, and if so, what disease does it relate to? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6893 | Given this variant in gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3, classify it as benign or pathogenic. Include the disorder it may cause if applicable. | Pathogenic; Epidermolysis bullosa pruriginosa | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6894 | Here is a genetic alteration in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Based on the data, is it a benign variant or a cause of disease? | Pathogenic; Nonsyndromic congenital nail disorder 8 | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6895 | Gene COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant. | Pathogenic; Transient bullous dermolysis of the newborn | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6896 | A mutation on Chromosome 3 affecting COL7A1 (collagen type VII alpha 1 chain) has been found. Is it harmful or harmless? What disease, if any, does it cause? | Pathogenic; Pretibial dystrophic epidermolysis bullosa | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6897 | An alteration has been detected in COL7A1 (collagen type VII alpha 1 chain) on Chromosome 3. Is it pathogenic, and if so, what disease is involved? | Pathogenic; Dominant dystrophic epidermolysis bullosa with absence of skin | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6898 | A variant affecting Chromosome 3, within the gene COL7A1 (collagen type VII alpha 1 chain), has been observed. Determine if it's benign or associated with disease. | Pathogenic; Recessive dystrophic epidermolysis bullosa | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
Task1_train_6899 | The gene COL7A1 (collagen type VII alpha 1 chain) is located on Chromosome 3, where a mutation has occurred. What is the medical relevance of this mutation? | Pathogenic; Generalized dominant dystrophic epidermolysis bullosa | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... | GCCAGGGCTCCTGGAGCTCATCCTCATTGCAGGAGATGACAGCCCAGGAGGTTGGCGCACACTACCCCAGGCATGGACACAGCTTGAAGGAGCCTCCTCCTCCTATCCACACACCTAGACTCACCTTCAGGCCAGAAGGTCCTTGGGGTCCTGCAGGGCCAGCAAGACCCTAGAGAAAAGGGTCAAGGGCAGGGAACAGGGCTCAGGGATTAACACAGAGAAGGCCTGGCTCATCAGCTGTGGCCAATGCCTATCCCAGCCCTTCCAGACCCTCACCAGGCAGTGTTCCCTGGTCACTCACCGGGGCACCAGGTGGTCCA... |
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